| Title: | Applying multimodal AI to physiological waveforms improves genetic prediction of cardiovascular traits |
| Journal: | American Journal of Human Genetics |
| Published: | 20 Jun 2025 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/40543505/ |
| DOI: | https://doi.org/10.1016/j.ajhg.2025.05.015 |
| URL: | https://www.cell.com/action/showPdf?pii=S0002929725002319 |
Publication 16379
WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.
Abstract
Electronic health records, biobanks, and wearable biosensors enable the collection of multiple health modalities from many individuals. Access to multimodal health data provides a unique opportunity for genetic studies of complex traits because different modalities relevant to a single physiological system (e.g., circulatory system) encode complementary and overlapping information. We propose a multimodal deep learning method, multimodal representation learning for genetic discovery on low-dimensional embeddings (M-REGLE), for discovering genetic associations from a joint representation of complementary electrophysiological waveform modalities. M-REGLE jointly learns a lower representation (i.e., latent factors) of multimodal physiological waveforms using a convolutional variational autoencoder, performs genome-wide association studies (GWASs) on each latent factor, then combines the results to study the genetics of the underlying system. To validate the advantages of M-REGLE and multimodal learning, we apply it to common cardiovascular modalities (photoplethysmogram [PPG] and electrocardiogram [ECG]) and compare its results to unimodal learning methods in which representations are learned from each data modality separately but are statistically combined for downstream genetic comparison. M-REGLE identifies 19.3% more loci on the 12-lead ECG dataset, 13.0% more loci on the ECG lead I + PPG dataset, and its genetic risk score significantly outperforms the unimodal risk score at predicting cardiac phenotypes, such as atrial fibrillation (Afib), in multiple biobanks.</p>
6 Keywords
- Cardiovascular Diseases
- Deep Learning
- Electrocardiography
- Genome-Wide Association Study
- Humans
- Phenotype
19 Authors
- Yuchen Zhou
- Justin Khasentino
- Taedong Yun
- Mahantesh I. Biradar
- Jacqueline Shreibati
- Dongbing Lai
- Tae-Hwi Schwantes-An
- Robert Luben
- Zachary R. McCaw
- Jorgen Engmann
- Rui Providencia
- Amand Floriaan Schmidt
- Patricia B. Munroe
- Howard Yang
- Andrew Carroll
- Anthony P. Khawaja
- Cory Y. McLean
- Babak Behsaz
- Farhad Hormozdiari
1 Application
| Application ID | Title |
|---|---|
| 65275 | Development of multimodal disease and trait prediction models for personalized medicine |
Enabling scientific discoveries that improve human health